Oculo-Auriculo-Vertebral Spectrum

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Oculo-Auriculo-Vertebral Spectrum is not the name you expected.

Disorder Subdivisions

None

General Discussion

Oculo-auriculo-vertebral spectrum (OAVS) refers to three rare disorders that many clinicians believe to be intimately related to one another and which represent the range of severity of the same disorder. These disorders are apparent at birth (congenital). As the name suggests, they involve malformations of the eyes, ears and spine.

Oculo-auriculo-vertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form. Hemifacial microstomia appears to be an intermediate form.

The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. However, such abnormalities tend to involve the cheekbones, jaw, mouth, ears, eyes, and/or bones of the spinal column (vertebrae). Although, in most cases (about 60%), such malformations affect one side of the body (unilateral), approximately 10 to 33 percent of affected individuals have such malformations on both sides of the body (bilateral), with one side typically more affected than the other (asymmetry). In the majority of such cases, the right side is more severely affected than the left.

In most cases OAVS appears to occur randomly, with no apparent cause (sporadic). However, in some cases, family histories suggest autosomal dominant or recessive inheritance. In addition, some researchers suggest that the disorder may be caused by the interaction of many genes, possibly in combination with environmental factors (multifactorial inheritance).

Supporting Organizations

American Academy of Audiology

11480 Commerce Park Drive

Suite 220

Reston, VA 20191

Tel: 703-790-8466

Fax: 703-790-8631

Tel: 800-222-2336

Email: infoaud@audiology.org

Website: http://www.audiology.org

American Speech-Language-Hearing Association

2200 Research Boulevard

Rockville, MD 20850-3289

United States

Tel: (301)296-5700

Fax: (301)296-8580

Tel: (800)638-8255

Email: actioncenter@asha.org

Website: http://www.asha.org

Atresia/Microtia Online E-mail Support Group

Email: AtresiaMicrotia-owner@yahoogroups.com

Website: http://health.groups.yahoo.com/group/AtresiaMicrotia/

Children's Craniofacial Association

13140 Coit Road

Suite 517

Dallas, TX 75240

USA

Tel: (214)570-9099

Fax: (214)570-8811

Tel: (800)535-3643

Email: contactCCA@ccakids.com

Website: http://www.ccakids.com

Cleft Lip and Palate Foundation of Smiles

2044 Michael Ave SW

Wyoming, MI 49509

Tel: (616)329-1335

Email: Rachelmancuso09@comcast.net

Website: http://www.cleftsmile.org

Ear Anomalies Reconstructed: Atresia/Microtia Support Group

72 Durand Road

Maplewood, NJ 7040

USA

Tel: (973)761-5438

Fax: (973)378-8930

Email: atresiamicrotia-subscribe@yahoogroups.com

FACES: The National Craniofacial Association

PO Box 11082

Chattanooga, TN 37401

Tel: (423)266-1632

Fax: (423)267-3124

Tel: (800)332-2373

Email: faces@faces-cranio.org

Website: http://www.faces-cranio.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Goldenhar Syndrome Support Network Society

PO Box 751112

Las Vegas, NV 89136-1112

USA

Fax: (702)341-5351

Tel: (888)486-1209

Email: info@ameriface.org

Website: http://www.goldenharsyndrome.org

March of Dimes

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Email: AskUs@marchofdimes.org or preguntas@nacersano.org

Website: http://www.marchofdimes.org and nacersano.org

NIH/National Eye Institute

31 Center Dr

MSC 2510

Bethesda, MD 20892-2510

United States

Tel: (301)496-5248

Fax: (301)402-1065

Email: 2020@nei.nih.gov

Website: http://www.nei.nih.gov/

NIH/National Heart, Lung and Blood Institute

P.O. Box 30105

Bethesda, MD 20892-0105

Tel: (301)592-8573

Fax: (301)251-1223

Email: nhlbiinfo@rover.nhlbi.nih.gov

Website: http://www.nhlbi.nih.gov/

National Association for Parents of Children with Visual Impairments (NAPVI)

P.O. Box 317

Watertown, MA 02272-0317

Tel: (617)972-7441

Fax: (617)972-7444

Tel: (800)562-6265

Email: napvi@perkins.org

Website: http://www.napvi.org

National Kidney Foundation

30 East 33rd Street

New York, NY 10016

Tel: (212)889-2210

Fax: (212)689-9261

Tel: (800)622-9010

Email: info@kidney.org

Website: http://www.kidney.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 9/23/2007Copyright 2007 National Organization for Rare Disorders, Inc.

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